SynthesisSchizophrenia bulletin2012
De novo mutation in schizophrenia.
Synthesis in Schizophrenia bulletin, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 57 citations in OpenAlex.
- Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases.Molecular neurobiology · 2026Article
- Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases.Research square · 2025Article
- Gut microbiota diversity is altered in a sex-dependent manner in Shank3B heterozygote mice.Frontiers in microbiomes · 2025Article
- De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes.Life (Basel, Switzerland) · 2024Article
- Identification and characterisation of de novo germline structural variants in two commercial pig lines using trio-based whole genome sequencing.BMC genomics · 2023Article
- Postzygotic Somatic Mutations in the Human Brain Expand the Threshold-Liability Model of Schizophrenia.Frontiers in psychiatry · 2020Review
- Genomic Variation, Evolvability, and the Paradox of Mental Illness.Frontiers in psychiatry · 2020Article
- Investigation of Schizophrenia with Human Induced Pluripotent Stem Cells.Advances in neurobiology · 2020Review
- New considerations for hiPSC-based models of neuropsychiatric disorders.Molecular psychiatry · 2019Review
- Convergent roles of de novo mutations and common variants in schizophrenia in tissue-specific and spatiotemporal co-expression network.Translational psychiatry · 2018Article
- Parental Age and Offspring Psychopathology in the Philadelphia Neurodevelopmental Cohort.Journal of the American Academy of Child and Adolescent Psychiatry · 2017Article
- Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder.PLoS genetics · 2017Article
- Positive Traits in the Bipolar Spectrum: The Space between Madness and Genius.Molecular neuropsychiatry · 2017Review
- Using Evolutionary Theory to Guide Mental Health Research.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2016Review
- Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling.G3 (Bethesda, Md.) · 2014Article
- Comparison of the heritability of schizophrenia and endophenotypes in the COGS-1 family study.Schizophrenia bulletin · 2014Article
- Validation and assessment of variant calling pipelines for next-generation sequencing.Human genomics · 2014Article
- A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation.Biological psychiatry · 2014Article
- Resting EEG in psychosis and at-risk populations--a possible endophenotype?Schizophrenia research · 2014Article
- Genetics of psychiatric disorders in the GWAS era: an update on schizophrenia.European archives of psychiatry and clinical neuroscience · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Several studies in the last 5 years have shown that newly arising (de novo) mutations contribute to the genetics of schizophrenia (SZ). This will replenish genetic variants removed by natural selection and could, in part, explain why SZ prevalence has remained stable in the general population despite low fecundity. The strongest evidence to date for the association between SZ and de novo mutation comes from studies of de novo copy number variation (CNV), where the rate of de novo CNV mutation is shown to be increased in cases when compared with controls, and genes disrupted by these mutations are enriched for those encoding proteins involved in synaptic function and development. Previous estimates have shown high levels of negative selection operating against SZ associated CNVs, and we provide an updated estimate of these levels of selection using the most recently published data. Recent studies involving next-generation sequencing technology have provided preliminary evidence that de novo single-nucleotide mutations might also increase risk of SZ. However, these are very small in scale, and the results can only be considered as preliminary.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.